1q25.3-q32.1 deletion causing multisystem developmental delay: a case report and literature review.

Lifang Liu1, Rong Yu1, Weizhong Zhang1

  • 1Department of Neonatology, Huizhou First Maternal and Child Health Care Hospital, Guangdong, China.

Summary

A 1q25.3-q32.1 deletion in a pediatric patient is detailed, revealing common clinical features like growth and developmental delays. This rare chromosomal disorder requires early diagnosis via chromosomal microarray analysis (CMA) for better outcomes.

Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.